Abstract | OBJECTIVES: The Agean is one of the regions in Turkey where thalassemias and abnormal hemoglobins (Hbs) are prevalent. Combined heterozygosity of thalassemia mutations with a variety of structural Hb variants lead to an extremely wide spectrum of clinical and hematological phenotypes which is of importance for prenatal diagnosis. METHODS: One hundred and seventeen patients and carriers diagnosed by hemoglobin electrophoresis (HPLC), at risk for abnormal hemoglobinopathies were screened for mutational analysis of the beta-globin gene. The full coding the 5' UTR, and the 3' UTR sequences of beta-globin gene (GenBank accession no. U01317) were amplified and sequenced. RESULTS: In this study, a total of 118 (12.24%) structural Hb variant alleles were identified in 1341 mutated beta-chain alleles in Medical Genetics Department of Ege University between January 2006 and November 2013. DISCUSSION: Here, we report the mutation spectrum of abnormal Hbs associated with the beta-globin gene in Aegean region of Turkey. CONCLUSION:
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Authors | Ayça Aykut, Hüseyin Onay, Asude Durmaz, Emin Karaca, Canan Vergin, Yeşim Aydınok, Ferda Özkınay |
Journal | Hematology (Amsterdam, Netherlands)
(Hematology)
Vol. 20
Issue 6
Pg. 354-8
(Jul 2015)
ISSN: 1607-8454 [Electronic] England |
PMID | 25313792
(Publication Type: Journal Article)
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Chemical References |
- Hemoglobins, Abnormal
- hemoglobin Hinsdale
- hemoglobin Andrew-Minneapolis
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Topics |
- Female
- Genotype
- Hemoglobinopathies
(diagnosis)
- Hemoglobins, Abnormal
(genetics)
- Humans
- Male
- Mutation
- Turkey
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